Browsing by Author "7e45ede2-adc6-4233-868a-b397aab22eca"

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    • Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase ... 
      Tobar, Hugo E.; Cataldo, Luis R.; González, Trinidad; Rodríguez, Ricardo; Serrano, Valentina; Arteaga, Antonio; Álvarez-Mercado, Ana; Lagos, Carlos F.; Vicuña, Lucas; Miranda, José P.; Pereira, Ana; Bravo, Carolina; Aguilera, Concepción M.; Eyheramendy, Susana; Uauy Dagach-Imbarack, Ricardo (BioMed Central Ltd., 2019)
      Background: Lecithin-cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies cholesterol in high- and low-density lipoproteins (HDL and LDL). Mutations in LCAT gene causes familial LCAT deficiency, which is ...